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Titin-truncating variants affect heart function in disease cohorts and the general population.
Schafer S, de Marvao A, Adami E, Fiedler LR, Ng B, Khin E, Rackham OJ, van Heesch S, Pua CJ, Kui M, Walsh R, Tayal U, Prasad SK, Dawes TJ, Ko NS, Sim D, Chan LL, Chin CW, Mazzarotto F, Barton PJ, Kreuchwig F, de Kleijn DP, Totman T, Biffi C, Tee N, Rueckert D, Schneider V, Faber A, Regitz-Zagrosek V, Seidman JG, Seidman CE, Linke WA, Kovalik JP, O'Regan D, Ware JS, Hubner N, Cook SA. Schafer S, et al. Nat Genet. 2017 Jan;49(1):46-53. doi: 10.1038/ng.3719. Epub 2016 Nov 21. Nat Genet. 2017. PMID: 27869827 Free PMC article.
Fractal Analysis of Right Ventricular Trabeculae in Pulmonary Hypertension.
Dawes TJW, Cai J, Quinlan M, de Marvao A, Ostrowski PJ, Tokarczuk PF, Watson GMJ, Wharton J, Howard LSGE, Gibbs JSR, Cook SA, Wilkins MR, O'Regan DP. Dawes TJW, et al. Radiology. 2018 Aug;288(2):386-395. doi: 10.1148/radiol.2018172821. Epub 2018 Jun 5. Radiology. 2018. PMID: 29869959 Free article.
Genetic and functional insights into the fractal structure of the heart.
Meyer HV, Dawes TJW, Serrani M, Bai W, Tokarczuk P, Cai J, de Marvao A, Henry A, Lumbers RT, Gierten J, Thumberger T, Wittbrodt J, Ware JS, Rueckert D, Matthews PM, Prasad SK, Costantino ML, Cook SA, Birney E, O'Regan DP. Meyer HV, et al. Nature. 2020 Aug;584(7822):589-594. doi: 10.1038/s41586-020-2635-8. Epub 2020 Aug 19. Nature. 2020. PMID: 32814899 Free PMC article.
A population-based phenome-wide association study of cardiac and aortic structure and function.
Bai W, Suzuki H, Huang J, Francis C, Wang S, Tarroni G, Guitton F, Aung N, Fung K, Petersen SE, Piechnik SK, Neubauer S, Evangelou E, Dehghan A, O'Regan DP, Wilkins MR, Guo Y, Matthews PM, Rueckert D. Bai W, et al. Nat Med. 2020 Oct;26(10):1654-1662. doi: 10.1038/s41591-020-1009-y. Epub 2020 Aug 24. Nat Med. 2020. PMID: 32839619 Free PMC article.
The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.
Aguib Y, Allouba M, Afify A, Halawa S, El-Khatib M, Sous M, Galal A, Abdelrahman E, Shehata N, El Sawy A, Elmaghawry M, Anwer S, Kamel O, El Mozy W, Khedr H, Kharabish A, Thabet N, Theotokis PI, Buchan R, Govind R, Whiffin N, Walsh R, Aguib H, Elguindy A, O'Regan DP, Cook SA, Barton PJ, Ware JS, Yacoub M. Aguib Y, et al. NPJ Genom Med. 2020 Oct 23;5:46. doi: 10.1038/s41525-020-00153-w. eCollection 2020. NPJ Genom Med. 2020. PMID: 33110626 Free PMC article.
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
Tadros R, Francis C, Xu X, Vermeer AMC, Harper AR, Huurman R, Kelu Bisabu K, Walsh R, Hoorntje ET, Te Rijdt WP, Buchan RJ, van Velzen HG, van Slegtenhorst MA, Vermeulen JM, Offerhaus JA, Bai W, de Marvao A, Lahrouchi N, Beekman L, Karper JC, Veldink JH, Kayvanpour E, Pantazis A, Baksi AJ, Whiffin N, Mazzarotto F, Sloane G, Suzuki H, Schneider-Luftman D, Elliott P, Richard P, Ader F, Villard E, Lichtner P, Meitinger T, Tanck MWT, van Tintelen JP, Thain A, McCarty D, Hegele RA, Roberts JD, Amyot J, Dubé MP, Cadrin-Tourigny J, Giraldeau G, L'Allier PL, Garceau P, Tardif JC, Boekholdt SM, Lumbers RT, Asselbergs FW, Barton PJR, Cook SA, Prasad SK, O'Regan DP, van der Velden J, Verweij KJH, Talajic M, Lettre G, Pinto YM, Meder B, Charron P, de Boer RA, Christiaans I, Michels M, Wilde AAM, Watkins H, Matthews PM, Ware JS, Bezzina CR. Tadros R, et al. Nat Genet. 2021 Feb;53(2):128-134. doi: 10.1038/s41588-020-00762-2. Epub 2021 Jan 25. Nat Genet. 2021. PMID: 33495596 Free PMC article.
291 results